A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601180



Internal ID6988219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82714743..82719895hg38UCSC Ensembl
chr4:83635896..83641048hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg385153
hg195153
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11521097, essv11521098
SamplesNA21100, NA20504
Known GenesSCD5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601180
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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